Association of cystic fibrosis genetic modifiers with congenital bilateral absence of the vas deferens

Havasi, Viktoria; Rowe, Steven; Kolettis, Peter; DAYANGAÇ ERDEN, DİDEM; Sahin, AHMET; Grangeia, Ana; Carvalho, Filipa; Barros, Alberto; Sousa, Mario; Bassas, Lluis; Casals, Teresa; Sorscher, Eric

doi:10.1016/j.fertnstert.2009.11.044

Association of cystic fibrosis genetic modifiers with congenital bilateral absence of the vas deferens

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Havasi V., Rowe S. M., Kolettis P. N., DAYANGAÇ ERDEN D., Sahin A., Grangeia A., ...More

FERTILITY AND STERILITY, vol.94, no.6, pp.2122-2127, 2010 (SCI-Expanded)

Publication Type: Article / Article
Volume: 94 Issue: 6
Publication Date: 2010
Doi Number: 10.1016/j.fertnstert.2009.11.044
Journal Name: FERTILITY AND STERILITY
Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Page Numbers: pp.2122-2127
Keywords: Congenital bilateral absence of the vas deferens, CBAVD, CFTR, cystic fibrosis, CF, modifier gene, TGF-beta, EDNRA, GROWTH-FACTOR-BETA, TRANSFORMING GROWTH-FACTOR-BETA-1 GENE, CFTR GENE, MALE-INFERTILITY, LUNG-DISEASE, IDENTIFICATION, MUTATIONS, FACTOR-BETA(1), REARRANGEMENTS, ENDOTHELIN-1
Acibadem Mehmet Ali Aydinlar University Affiliated: Yes

Abstract

Objective: To investigate whether genetic modifiers of cystic fibrosis (CF) lung disease also predispose to congenital bilateral absence of the vas deferens (CBAVD) in association with cystic fibrosis transmembrane conductance regulator (CFTR) mutations. We tested the hypothesis that polymorphisms of transforming growth factor (TGF)-beta 1 (rs 1982073, rs 1800471) and endothelin receptor type A (EDNRA) (rs 5335, rs 1801708) are associated with the CBAVD phenotype.